ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1292del (p.Pro431fs) (rs770529422)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800533 SCV000940254 uncertain significance Dyskeratosis congenita 2019-05-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TINF2 gene (p.Pro431Leufs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acids of the TINF2 protein and extend the protein by an additional 10 amino acids. This variant is present in population databases (rs770529422, ExAC 0.02%). This variant has not been reported in the literature in individuals with TINF2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted and additional amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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